European Birt-Hogg-Dube Consortium

LOVD - Variant listings for FLCN

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+/+ 01 c.-504-?_c-228+?del - - Deletion Intragenic deletion See reference for details on breakpoints ~4 different deletions of exon 1 reported FLCN_00138 - BHD - - Benhammou et al 2011 - - - - - - 1
-/- 01 c.-487G>C - - SNP 5'UTR. rs1736209 FLCN_00089 - - - - dbSNP-rs1736209 {RS:rs1736209} Cho et al 2008 - - - - - - 1
-/- 01 c.-302G>A - - SNP 5'UTR. rs41345949. Previously reported as c-302C>T FLCN_00090 - - - - dbSNP-rs41345949 {RS:rs41345949} Cho et al 2008 - - - - - - 1
-/- 01 c.-299C>T - - SNP 5'UTR. rs1708629. Previously reported as c.-299G>A FLCN_00091 - - - - dbSNP-rs1708629 {RS:rs1708629} Cho et al 2008 - - - - - - 1
-/- 01i c.-228+1368G>T - - SNP IVS1. rs41388547 Previously reported as c.-228+1368C>A FLCN_00093 - - - - dbSNP-rs41388547 {RS:rs41388547} Cho et al 2008 - - - - - - 1
-/- 01i c.229+994A>G - - SNP IVS1. rs41337846 Previously reported as c.-228+994C>T FLCN_00092 - - - - dbSNP-rs41337846 {RS:rs41337846} Cho et al 2008 - - - - - - 1
+/+ 02-05 c.-227-853_c.397-295del - - Deletion Large intragenic deletion FLCN_00136 - BHD - - Benhammou et al 2011 - - - - - - 1
+/+ 02-11 c.-227-?_c.1432+?dup - - Other Large intragenic duplication Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk FLCN_00140 - BHD - - United Kingdom (Great Britain):Birmingham - - - - - - 1
-/- 03 c.-90A>G - - SNP 5'UTR. rs8069957. Previously reported as c.-90T>C FLCN_00094 - - - - dbSNP-rs8069957 {RS:rs8069957} Cho et al 2008 - - - - - - 1
-/- 03i c.-25+100C>G - - SNP IVS3. rs1736212 FLCN_00095 - - - - dbSNP-rs1736212 {RS:rs1736212} Cho et al 2008 - - - - - - 1
-/- 03i c.1-64A>G
    + c.583G>T
- - SNP Intron 3. IVS3-64A>G. Observed with another pathogenic mutation FLCN_00069 - BHD - - Lim et al 2010, United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 04 c.1A>G - p.Met1? Missense Missense ?affect splicesite and start codon. FLCN_00001 - BHD - - Lim et al 2010, United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 04 c.3delG - p.Met1? Other Mutation in start codon. Predicted no translation. Previously reported as c.458delG. FLCN_00002 - BHD - - Bessis et al 2006 Kluger et al 2009 - - - - - - 2
+?/+ 04 c.3G>A - p.Met1? Missense - FLCN_00119 - BHD - Unpublished. For further informaton please contact submitter (see reference). Netherlands:Maastricht - - - - - - 1
+?/+? 04 c.20T>C - p.Leu8Pro Missense - FLCN_00149 - BHD pulmonary cysts, pneumothorax, thyroid cancer thyroid cancer Japan:Yokohama familial, autosomal dominant - Japan - Female 57y 1
+/+ 04 c.50G>C - p.Arg17Pro Missense - FLCN_00152 - BHD - - Cesar et al 2016 familial, autosomal dominant no - - - - 1
+/+ 04 c.59delT - p.Phe20SerfsX35 Frameshift - FLCN_00003 - BHD - - Schmidt et al 2005 Toro et al 2008 - - - - - - 1
+/+ 04 c.97dupG - p.Asp33GlyfsX4 Frameshift Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk FLCN_00135 - BHD - - United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 04 c.147delA - p.Gly50ValfsX5 Frameshift Previously reported as c.602delA FLCN_00004 - BHD - - Toro et al 2008 - - - - - - 1
+/+ 04 c.235_238delTCGG - p.Ser79ThrfsX50 Frameshift Previously reported as c.690-3delTCGG. FLCN_00005 - Primary Spontaneous Pneumothorax - - Painter et al 2005 - - - - - - 1
+/+ 04 c.240delC - p.Asp80GlufsX50 Frameshift - FLCN_00006 - BHD - - Lim et al 2010, United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 04i c.250-2A>G - - Splicesite Intron 4 affecting splice site. Previously reported as IVS4-2A>G. FLCN_00049 - BHD - - Toro et al 2008 - - - - - - 1
+/+ 04i c.250-1G>A - - Splicesite Intron 4 affecting splice site. Previously reported as IVS4-1G>A. FLCN_00058 - BHD - - Schmidt et al 2005 - - - - - - 1
+/+ 05 c.252delC - p.Cys85AlafsX45 Frameshift Previously reported as c.707delC. FLCN_00059 - BHD - - Schmidt et al 2005 - - - - - - 1
+/+ 05 c.296delA - p.Asp99ValfsX31 Frameshift Previously reported as c.751delA. FLCN_00007 - BHD - - Schmidt et al 2005, Toro et al 2008 - - - - - - 1
+/+ 05 c.319_320delGTinsCAC - p.Val107HisfsX26 Frameshift Previously reported as c.774-5delGTinsCAC. FLCN_00008 - BHD - - Toro et al 2008 - - - - - - 1
+?/+? 05 c.323G>T - p.Ser108Ile Missense - FLCN_00113 - BHD - - Kluger et al 2009 - - - - - - 1
+/+ 05 c.328C>T - p.Gln110X Nonsense - FLCN_00132 - BHD - Mainly Lung manifestations Kunogi et al 2010 - - - Japanese - - 1
+?/+? 05 c.332_349del - p.H111_Q116del Deletion predicting protein change; “HPSHPQ” replaced by a single amino acid “L” FLCN_00141 - BHD (renal tumor/lung cysts) Deletion of 18 bp in exon 5 (c.332_349del) Renal tumor/lung cysts. 3-generation family with 1 affected and 2 non-penetrant carriers. Nagashima Int J Urol. 2011, Japan:Yokohama - - Japan Japanese Female - 1
+/+ 05 c.340dupC - p.His114ProfsX19 Frameshift Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk. FLCN_00115 - BHD - - United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 05 c.347dupA - p.Leu117AlafsX16 Frameshift Previously reported as c.802insA & c.802dupA. FLCN_00009 - BHD - - Toro et al 2008, Palmirotta et al 2008 - - - - - - 1
+/+ 05 c.394G>A - p.Glu132Lys Missense - FLCN_00010 - Primary Spontaneous Pneumothorax - - Frohlich et al 2008 - - - - - - 1
-/- 05i c.396+59T>C - - SNP IVS5+59T>C. rs41525346. Previously reported as c.396+59A>G FLCN_00070 - - - - dbSNP-rs41525346 {RS:rs41525346} Cho et al 2008 - - - - - - 1
-/- 05i c.397-14C>T - - SNP IVS5-14C>T. rs1736219. Previously reported as c.397-14A>G FLCN_00072 0.492 - - - dbSNP-rs1736219 {RS:rs1736219} Cho et al 2008 - - - - - - 1
-/- 05i c.397-13G>A - - SNP IVS5-13G>T. rs3744123 FLCN_00071 0.262 - - - dbSNP-rs37441231 {RS:rs3744123} - - - - - - 1
+/+ 05i c.397-10_397-1del - - Splicesite Intron 5 affecting splice site. Previously reported as IVS5-1delgtccctccag. FLCN_00050 - Primary Spontaneous Pneumothorax - - Gunji et al 2007 - - - - - - 1
+/+ 05i c.397-7_399del - - Splicesite - FLCN_00114 - Primary Spontaneous Pneumothorax - Same patient described in both references Ishi et al 2009, Kunogi et al 2010 - - - Japanese - - 1
+/+ 05i c.397-1G>C Exon 6 skip - Splicesite Exon 6 skip. Unpublished. For further information contact Furuya.mfuruya@yokohama-cu.ac.jp FLCN_00143 - BHD (lung cysts, pneumothorax) lung cysts, pneumothorax, skin tumor 2-generation family with 3 affected carriers. [Nishii T et al], Japan:Yokohama familial, autosomal dominant ? Japan - Female 33y 1
+/+ 06 c.404delC - p.Pro135LeufsX42 Frameshift Previously reported as c.857delC. FLCN_00011 - BHD - - Gunji et al 2007, Leter et al 2008 - - - - - - 1
+/+ 06 c.420delC - p.Ile141SerfsX36 Frameshift Previously reported as c.875delC. FLCN_00012 - BHD - - van Steensel et al 2007, Leter et al 2008 - - - - - - 1
+/+ 06 c.443_459del - p.His148ProfsX46 Frameshift - FLCN_00087 - BHD - - Lim et al 2010, Netherlands:Maastricht - - - - - - 1
+/+ 6 c.453delG - p.Phe152SerfsX25 Deletion - FLCN_00146 - Birt-Hogg-Dube Multiple lung cysts, recurrent spontaneous pneumothorax, family history of recurrent spontaneous pneumothorax (mother) and clear cell RCC (maternal grandmother) minimal skin findings United States:Baltimore familial, autosomal dominant ? ? (unknown) - Female 32 1
+?/+? 06 c.469_471delTTC - p.Phe157del Deletion Previously reported as c.924delTTC. FLCN_00013 - Primary Spontaneous Pneumothorax - - Ren et al 2008 - - - - - - 1
+/+ 06 c.499C>T - p.Gln167X Nonsense de novo mutation FLCN_00144 - BHD - - Menko et al., 2012, United Kingdom (Great Britain):London isolated (sporadic) - - - - - 1
+/+ 06 c.510C>A - p.Tyr170X Nonsense - FLCN_00116 - BHD - Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 06 c.543C>G - p.Tyr181* Nonsense - FLCN_00155 - BHD Mainly lung cysts. One affected family member with pneumothorax. - Liu et al 2014 familial, autosomal dominant no - - - - 1
+/+ 06 c.563delT - p.Phe188Serfs*35 Frameshift - FLCN_00153 - BHD - - Naf et al 2015 familial, autosomal dominant - - - - - 1
+/+ 06 c.566_577delTGCTGGGGAAGGinsCC - p.Leu189ProfsX31 Frameshift Previously reported as c.[564_565dupCC;566_577delTGCTGGGGAAGG] FLCN_00131 - BHD - - Kunogi et al 2010 - - - Japanese - - 1
+/+ 06 c.583G>T
    + c.1-64A>G
- p.Gly195X Nonsense - FLCN_00014 - BHD - - Lim et al 2010, United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 06 c.584delG - p.Gly195GlufsX28 Frameshift Previously reported as c.1039delG & c.1036delG. FLCN_00015 - BHD - - Schmidt et al 2005, Toro et al 2008 - - - - - - 1
+/+ 06 c.610_611delGCinsTA - p.Ala204X Nonsense Previously reported as c.1065-6delGCinsTA. FLCN_00016 - BHD - - Leter et al 2008, Toro et al 2008 - - - - - - 1
+/+? 06i c.618+2T>A - - Splicesite - FLCN_00111 - BHD - - Kluger et al 2009 - - - - - - 1
-/- 06i c.619-66C>T - - SNP IVS6-66C>T. rs2292527. Previously reported as c.619-66G>A FLCN_00073 0.130 - - rs2292527 dbSNP-rs2292527 {RS:rs2292527} Cho et al 2008 - - - - - - 1
+/+ 06i c.619-1G>A - - Splicesite Intron 6 affecting splice site. Previously reported as IVS6-1G>A & c.1074-1G>A. FLCN_00051 - BHD - - Leter et al 2008 - - - - - - 1
+/+ 07 c.632_633delAGinsC - p.Glu211AlafsX12 Frameshift Previously reported as c.1087delAGinsC. FLCN_00017 - BHD - - Nickerson et al 2002, Schmidt et al 2005 - - - - - - 1
+/+ 07 c.637delT - p.Phe213LeufsX10 Frameshift Previously reported as c.1092delT. FLCN_00060 - BHD - - Schmidt et al 2005 - - - - - - 1
+/+ 07 c.649C>T - p.Gln217X Nonsense - FLCN_00112 - BHD - - Kluger et al 2009 - - - - - - 1
+/+ 07 c.655dupG - p.Ala219GlyfsX29 Frameshift Previously reported as c.1110dupG. FLCN_00018 - BHD - - Leter et al 2008 - - - - - - 1
+/+ 07 c.671_672delCA - p.Thr224SerfsX23 Frameshift Previously reported as c.1126delCA FLCN_00061 - BHD - - Schmidt et al 2005 - - - - - - 1
+/+ 07-14 c.675-?_c.*+?del - - Deletion Large intragenic deletion FLCN_00137 - BHD - - Benhammou et al 2011 - - - - - - 1
+/+ 07 c.689dupT - p.His231ThrfsX17 Frameshift Unpublished. For further details contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk FLCN_00117 - BHD - - United Kingdom (Great Britain):Birmingham - - - - - - 1
+?/+? 07 c.715C>T - p.Arg239Cys Missense Previously reported as c.1213C>T. FLCN_00019 - Other - Please specify in remarks - Familial RCC. Woodward et al 2008 - - - - - - 1
-/- 07 c.726A>T - p.Thr242Thr SNP Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk FLCN_00074 - Other - Please specify in remarks - - United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 07 c.769_771delTCC - p.Ser257del Deletion - FLCN_00125 - BHD - Only Lung manifestations Kunogi et al 2010 - - - Japanese - - 1
+/+ 07 c.769_771delTCC - p.Ser257del Deletion - FLCN_00125 - BHD - - Kunogi et al 2010 - - - Japanese - - 1
+?/+? 07 c.771delC - p.Phe258LeufsX5 Frameshift - FLCN_00134 - BHD - diagnosed by Tommasetti - Forlì Tommassetti et al 2011, Italy:12100 Confreria-Cuneo - - - Italian - - 1
+/+ 07 c.779G>A - p.Trp260X Nonsense - FLCN_00020 - Primary Spontaneous Pneumothorax - - Frohlich et al 2008 - - - - - - 1
+/+ 07i c.779+1G>T - - Splicesite Intron 7 affecting splice site. Previously reported as IVS7+1 G>T. FLCN_00052 - BHD - - Toro et al 2008 - - - - - - 1
-/- 07i c.779+113C>T - - SNP IVS7. rs41356848. Previously reported as c.779+113G>A FLCN_00096 - - - - dbSNP-rs41356848 {RS:rs41356848} Cho et al 2008 - - - - - - 1
+/+ 08 c.836_839delCCGA - p.Thr279ArgfsX13 Frameshift Unpublished. For further information contact derek.lim@bwhct.nhs.uk, e.r.maher@bham.ac.uk FLCN_00021 - BHD - - Lim et al 2010, United Kingdom (Great Britain):Birmingham - - - - - - 1
+?/+? 08i c.871+3_c.871+4delGAinsTCCAGAT - - Other Unpublished. For further informaton please contact submitter (see reference). FLCN_00118 - BHD - - Netherlands:Maastricht - - - - - - 1
-/- 08i c.871+13T>C - - SNP IVS8+13T>C. Unpublished. For further info contact derek.lim@bwhct.nhs.uk, e.r.maher@bham.ac.uk FLCN_00075 - - - - United Kingdom (Great Britain):Birmingham - - - - - - 1
-/- 08i c.871+16T>A - - SNP IVS8+16T>C. Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk FLCN_00076 - - - - United Kingdom (Great Britain):Birmingham - - - - - - 1
-/- 08i c.871+36G>A - - SNP IVS8+36G>A. rs3744124. Previously reported as c.871+36C>T FLCN_00077 0.245 - - - dbSNP-rs3744124 {RS:rs3744124} Cho et al 2008 - - - - - - 1
-/- 08i c.871+204A>G - - SNP IVS8+204A>G. rs41462849. Previously reported as c.871+204T>C FLCN_00078 - - - - dbSNP-rs41462849 {RS:rs41462849} Cho et al 2008 - - - - - - 1
-/- 08i c.871+226G>A - - SNP IVS8+226G>A. rs41400246. Previously reported as c.871+226C>T FLCN_00079 - - - dbSNP-rs41400246 {RS:rs41400246} Cho et al 2008 - - - - - - 1
-/- 08i c.871+684G>A - - SNP IVS8. rs41323249. Previously reported as c.871+684C>T FLCN_00097 - - - - dbSNP-rs41323249 {RS:rs41323249} Cho et al 2008 - - - - - - 1
+/+ 09~14 c.872-?_c.1740+?del - - Deletion Large genomic deletion involving exons 09-14 FLCN_00128 - BHD - Mainly Lung manifestations Kunogi et al 2010 - - - Japanese - - 1
+/+ 09 c.887C>A - p.Ser296X Nonsense - FLCN_00126 - BHD - - Kunogi et al 2010 - - - Japanese - - 1
+/+ 09 c.890_893delAAAG - p.Glu297AlafsX25 Frameshift Previously reported as c.1388_1391delAAAG and c.1345_1348delAAAG. FLCN_00022 - BHD - - Woodward et al 2008 Palmirotta et al 2008 Kluger et al 2009 - - - - - - 1
+/? 09 c.906dupT
    + c.995_998delTCTC
- p.(?) Nonsense - FLCN_00147 - BHD Spontaneous Pneumothorax Multiple pulmonary cysts - Furuya M and Nakatani Y 2012, Japan:Yokohama familial, autosomal dominant yes Japan - Female 31 1
+/+ 09 c.923_950dup - p.Gly319SerfsX80 Frameshift Previously reported as c.1378-1405dup. FLCN_00023 - BHD - - Nickerson et al 2002, Schmidt et al 2005, Toro et al 2008 - - - - - - 1
+/+ 09 c.943G>T - p.Glu315X Nonsense Previously reported as c.1398G>T. FLCN_00024 - Primary Spontaneous Pneumothorax - - Graham et al 2005 - - - - - - 1
+/+ 09 c.995_998delTCTC
    + c.906dupT
- Leu332Glnfs*20 Frameshift - FLCN_00145 - BHD Spontaneous Pneumothorax Multiple pulmonary cysts - Furuya M and Nakatani Y 2012, Japan:Yokohama familial, autosomal dominant yes Japan - Female 31 1
+/+ 9 c.995_998delTCTC - p.Leu332GlnfsX20 Frameshift - FLCN_00145 - pneumothorax pulmonary cysts 2-generation family with 3 affecters Japan:Yokohama familial, autosomal dominant - Japan - Female - 1
+/+ 09 c.997_998dupTC - p.Gly334GlnfsX20 Frameshift - FLCN_00133 - BHD - Mainly Lung manifestations Kunogi et al 2010 - - - Japanese - - 1
+/+ 09 c.1013delG - p.Trp338CysfsX15 Frameshift Previously reported as c.1468delG. FLCN_00062 - BHD - - Schmidt et al 2005 - - - - - - 1
+/+ 09 c.1021delC - p.Arg341GlyfsX12 Frameshift Previously reported as c.1473delC. FLCN_00063 - BHD - - Schmidt et al 2005 - - - - - - 1
+/+ 09i c.1062+1G>A - - Splicesite Intron 9 affecting splice site. Previously reported as IVS9+1G>A. FLCN_00057 - BHD - - Schmidt et al 2005 - - - - - - 1
+/+ 09i c.1062+2T>G - - Splicesite Intron 9 affecting splice site. Previously reported as IVS9+2 T>G. FLCN_00053 - BHD - - Schmidt et al 2005, Gad et al 2007, Toro et al 2008 - - - - - - 1
-/? 09i c.1062+5G>A - - SNP Previously reported as IVS9+5C>T. FLCN_00107 - - - - Palmirotta et al 2008 - - - - - - 1
-/- 09i c.1062+6C>T - - SNP IVS9+6C>T. rs8065832. Previously reported as c.1062+6G>A FLCN_00080 0.500 - - - dbSNP-rs8065832 {RS:rs8065832} Cho et al 2008 - - - - - - 1
-/- 09i c.1062+47G>A - - SNP IVS9+47G>A.rs8065572 FLCN_00081 - - - - dbSNP-rs8065572 {RS:rs8065572} - - - - - - 1
-/- 09i c.1063-172C>G - - SNP IVS9. rs4985705 FLCN_00098 - - - - dbSNP-rs4985705 {RS:rs4985705} Cho et al 2008 - - - - - - 1
-/- 09i c.1063-117C>T - - SNP IVS9. rs4985751. Previously reported as c.1063-117G>A FLCN_00099 - - - - dbSNP-rs4985751 {RS:rs4985751} Cho et al 2008 - - - - - - 1
+/+ 09i c.1063-10_1065delTCTTGTTTAGGTC - - Splicesite - FLCN_00122 - BHD - Only Lung manifestations in patient Kunogi et al 2010 - - - Japanese - - 1
+/+ 09i c.1063-2A>G - - Splicesite Exon 10 skip (38 amino acid in-frame deletion) FLCN_00129 - BHD - Mainly Lung manifestations Kunogi et al 2010 - - - Japanese - - 1
+/+ 10-11 c.1063-154_1300+410dup - p.Glu434GlyfsX35 Frameshift Intragenic duplication resulting in frameshift FLCN_00139 - BHD - - Benhammou et al 2011 - - - - - - 1
+/+ 10 c.1076delC - p.Pro359LeufsX16 Frameshift - FLCN_00025 - BHD - - Lim et al 2010, United Kingdom (Great Britain):Birmingham - - - - - - 1
+/+ 10 c.1127G>A - p.Trp376X Nonsense - FLCN_00108 - BHD - - Maffe et al 2010 , Tomassetti et al 2011, Italy:FORLì - - - Italian - - 1
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Legend: [ FLCN full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7 DNA change: DNA change = description of variant at DNA level, based on a coding DNA reference sequence, following HGVS recommendations; e.g. c.123C>T RNA change: RNA change = description of variant at RNA level, following HGVS recommendations; e.g. r.123c>u, r.? = unknown, r.(?) = RNA not analysed but probably directly transcribed copy of DNA variant, r.spl? = RNA not analysed but variant probably affects splicing, r.stab = RNA stability affected (no altered splice product detected) Protein change: description of variant at protein level (HGVS recommendations); p.Arg345Pro = RNA-predicted protein change, p.(Arg345Pro) = DNA-predicted protein change (RNA not analysed), p.(del) = DNA predicted in-frame deletion in protein (RNA not analysed), p.(fsX) = DNA-predicted frame shifting deletion in protein (RNA not analysed), p.(?) = protein change unknown Type: Type of variant. Variant remarks: Variant remarks = remarks regarding variant described, e.g. not in 100 control chromosomes, 345 kb deletion, muscle RNA analysed, germline mosaicism in mother, etc. FLCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Frequency: frequency in which the variant was found; e.g 5/76 chomosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested). NOTE: prefered format is 3/75, not 0.04 Disease: Disease = phenotype of the patient(s), as reported in paper/by submitter, unless modified by the curator Phenotype_details: Phenotype_details = additional information on the phenotype of the patient Remarks: Remarks = any remarks on the family, e.g. 4-generation family with 6 affecteds and 3 non-penetrant carriers, sister of patient 12366743.Pat2 Reference patient: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID1:2} (where 1 = PubMedID, 2 = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: this in not to give the reference to another report describing this variant. Inher.: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Cons.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Geographic origin: geographic origin of patient; (France) = reported by laboratory in France, origin patient not sure Ethnic origin: Ethnic origin of patient Gender: Patient gender Age: age in years, e.g. 47y # Reported: Number of times this case has been reported


European Birt-Hogg-Dube Consortium